DDX46 — 29 ClinVar variants
All ClinVar germline DDX46 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →
29 Uncertain significance
Full DDX46 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 29
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DDX46 p.Asn940Ser Uncertain significance Multiple submitters
- DDX46 p.Ala178Thr Uncertain significance Single submitter
- DDX46 p.Arg410Gln Uncertain significance Single submitter
- DDX46 p.Asn116Thr Uncertain significance Single submitter
- DDX46 p.Asp77Glu Uncertain significance Single submitter
- DDX46 p.Asp77Tyr Uncertain significance Single submitter
- DDX46 p.Gln582Glu Uncertain significance Single submitter
- DDX46 p.Glu221Lys Uncertain significance Single submitter
- DDX46 p.Glu254Gly Uncertain significance Single submitter
- DDX46 p.Glu444Lys Uncertain significance Single submitter
- DDX46 p.Glu618Gln Uncertain significance Single submitter
- DDX46 p.Ile371Val Uncertain significance Single submitter
- DDX46 p.Leu355Met Uncertain significance Single submitter
- DDX46 p.Lys372Asn Uncertain significance Single submitter
- DDX46 p.Lys604Glu Uncertain significance Single submitter
- DDX46 p.Met874Val Uncertain significance Single submitter
- DDX46 p.Phe606Leu Uncertain significance Single submitter
- DDX46 p.Phe756Ile Uncertain significance Single submitter
- DDX46 p.Pro368Leu Uncertain significance Single submitter
- DDX46 p.Ser111Asn Uncertain significance Single submitter
- DDX46 p.Ser754Arg Uncertain significance Single submitter
- DDX46 p.Thr260Met Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- DDX46 p.Arg101Gln Uncertain significance Single submitter
- DDX46 p.Arg545His Uncertain significance Single submitter
- DDX46 p.Asn698Ser Uncertain significance Single submitter
- DDX46 p.Gly885Asp Uncertain significance Single submitter
- DDX46 p.Met435Val Uncertain significance Single submitter
- DDX46 p.Met544Leu Uncertain significance Single submitter
- DDX46 p.Ser246Arg Uncertain significance Single submitter
All DDX46 variants
Uncertain significance 29
- p.Asn940Ser Multiple submitters ⚠
- p.Ala178Thr Single submitter ⚠
- p.Arg101Gln Single submitter ⚠
- p.Arg410Gln Single submitter ⚠
- p.Arg545His Single submitter ⚠
- p.Asn116Thr Single submitter ⚠
- p.Asn698Ser Single submitter ⚠
- p.Asp77Glu Single submitter ⚠
- p.Asp77Tyr Single submitter ⚠
- p.Gln582Glu Single submitter ⚠
- p.Glu221Lys Single submitter ⚠
- p.Glu254Gly Single submitter ⚠
- p.Glu444Lys Single submitter ⚠
- p.Glu618Gln Single submitter ⚠
- p.Gly885Asp Single submitter ⚠
- p.Ile371Val Single submitter ⚠
- p.Leu355Met Single submitter ⚠
- p.Lys372Asn Single submitter ⚠
- p.Lys604Glu Single submitter ⚠
- p.Met435Val Single submitter ⚠
- p.Met544Leu Single submitter ⚠
- p.Met874Val Single submitter ⚠
- p.Phe606Leu Single submitter ⚠
- p.Phe756Ile Single submitter ⚠
- p.Pro368Leu Single submitter ⚠
- p.Ser111Asn Single submitter ⚠
- p.Ser246Arg Single submitter ⚠
- p.Ser754Arg Single submitter ⚠
- p.Thr260Met Single submitter ⚠